Abstract:
:A hereditary ceruloplasmin deficiency associated with severe iron deposition in visceral organ and brain tissues found on histopathological examination at autopsy is discussed. Three siblings of consanguineous Japanese parents were studied. Their clinical symptoms were progressive dementia, extrapyramidal disorders, cerebellar ataxia, and diabetes mellitus, all of which appeared when they were between 30 and 50 years old. All had serum ceruloplasmin deficiencies and increased serum ferritin concentrations. The dentate nucleus, thalamus, putamen, caudate nucleus, and liver of each one showed low signal intensities on T1- and T2-weighted magnetic resonance images. Examination of the central nervous system revealed severe destruction of the basal ganglia and dentate nucleus, with considerable iron deposition in neuronal and glial cells, whereas the cerebral cortex showed mild iron deposition in glial cells without neuronal involvement. An electron microscopic study with energy-dispersive x-ray analysis showed iron depositions in the hepatocytes, of both the neural and glial cells of the brain. We consider this a new disease entity because of the primary ceruloplasmin deficiency.
journal_name
Ann Neuroljournal_title
Annals of neurologyauthors
Morita H,Ikeda S,Yamamoto K,Morita S,Yoshida K,Nomoto S,Kato M,Yanagisawa Ndoi
10.1002/ana.410370515subject
Has Abstractpub_date
1995-05-01 00:00:00pages
646-56issue
5eissn
0364-5134issn
1531-8249journal_volume
37pub_type
杂志文章abstract::The etiology of neurodegenerative diseases remains enigmatic; however, evidence for defects in energy metabolism, excitotoxicity, and for oxidative damage is increasingly compelling. It is likely that there is a complex interplay between these mechanisms. A defect in energy metabolism may lead to neuronal depolarizati...
journal_title:Annals of neurology
pub_type: 杂志文章,评审
doi:10.1002/ana.410380304
更新日期:1995-09-01 00:00:00
abstract:OBJECTIVE:Traumatic brain injury (TBI) often results in traumatic axonal injury (TAI). This can be difficult to identify using conventional imaging. Diffusion tensor imaging (DTI) offers a method of assessing axonal damage in vivo, but has previously mainly been used to investigate groups of patients. Machine learning ...
journal_title:Annals of neurology
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doi:10.1002/ana.23824
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journal_title:Annals of neurology
pub_type: 杂志文章
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更新日期:2009-11-01 00:00:00
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journal_title:Annals of neurology
pub_type: 杂志文章
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abstract::In 2006, Yamanaka's group pioneered a method for reprogramming somatic cells by introducing definite transcription factors, which enabled the generation of induced pluripotent stem cells (iPSCs) with pluripotency comparable to that of embryonic stem cells. These iPSCs are attracting considerable attention for their po...
journal_title:Annals of neurology
pub_type: 杂志文章,评审
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更新日期:2012-08-01 00:00:00
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journal_title:Annals of neurology
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更新日期:1994-01-01 00:00:00
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journal_title:Annals of neurology
pub_type: 杂志文章
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更新日期:1985-06-01 00:00:00
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journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.21796
更新日期:2009-12-01 00:00:00
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journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410250411
更新日期:1989-04-01 00:00:00
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journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.10066
更新日期:2001-12-01 00:00:00
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journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410380608
更新日期:1995-12-01 00:00:00
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journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.24930
更新日期:2017-05-01 00:00:00
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journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410410212
更新日期:1997-02-01 00:00:00
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journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.20958
更新日期:2006-10-01 00:00:00
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journal_title:Annals of neurology
pub_type: 杂志文章
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更新日期:2011-02-01 00:00:00
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journal_title:Annals of neurology
pub_type: 杂志文章
doi:
更新日期:2000-02-01 00:00:00
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journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410280408
更新日期:1990-10-01 00:00:00
abstract::A family with Gerstmann-Sträussler-Scheinker disease had coincidental clinical onset in three members of two generations, a phenomenon suggesting a common source of a transmissible agent. A regular dietary supplement in this family was home-bred rabbit. The clinical picture, although generally similar to that in previ...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410140611
更新日期:1983-12-01 00:00:00
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journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/1531-8249(199908)46:2<243::aid-ana14>3.0.c
更新日期:1999-08-01 00:00:00
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journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410220412
更新日期:1987-10-01 00:00:00
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journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410240603
更新日期:1988-12-01 00:00:00
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journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410090209
更新日期:1981-02-01 00:00:00
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journal_title:Annals of neurology
pub_type: 杂志文章
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更新日期:1983-11-01 00:00:00
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journal_title:Annals of neurology
pub_type: 杂志文章
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更新日期:2019-10-01 00:00:00
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journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410080207
更新日期:1980-08-01 00:00:00
abstract::We describe two new clinical syndromes, mirror agnosia and mirror ataxia, both characterized by the deficit of reaching for an object through a mirror in association with a lesion of either parietal lobe. Clinical investigation of 13 patients demonstrated that the impairments affected both sides of the body. In mirror...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/1531-8249(199907)46:1<51::aid-ana9>3.0.co;
更新日期:1999-07-01 00:00:00
abstract::Autopsy examination confirmed the diagnosis of subacute necrotizing encephalomyelopathy (SNE) in a 7-month-old male infant who underwent several metabolic studies before death. Intermittent lactic acidemia and fumaric aciduria, an extreme hyperglycemic response to an intravenous bolus of alanine, and an elevated total...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410060605
更新日期:1979-12-01 00:00:00
abstract::To study the distribution of myelin-associated glycoprotein (MAG) in human nervous tissue and in multiple sclerosis (MS) lesions, we used paraffin sections and our modification of the peroxidase-antiperoxidase technique. Sections of MS lesions also were treated with antiserum to basic protein (BP) and with histologica...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410070212
更新日期:1980-02-01 00:00:00
abstract::Neuronal injury resulting from glutamate receptor-mediated excitotoxicity has been implicated in a wide spectrum of neurological disease states, including ischemia, central nervous system trauma, and some types of neurodegenerative diseases. Excitotoxicity may interact with other pathophysiological processes to enhanc...
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pub_type: 杂志文章,评审
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更新日期:1994-01-01 00:00:00